ESPE Abstracts

Introduction: The 3 M- syndrome is a rare autosomal recessive disease, which was named after the three first authors Miller, McKusick and Malvaux. It is characterized by pre- and postnatal disproportionate short stature with micromelia, relative macrocephaly, and radiological bone dysmorphism. It is based on a mutation in one of the three genes CUL7, OBSL1 or CCDC8.Methodology: We report on a meanwhile 4 4/12- year- old girl who presente...

Background: Childhood overt hypothyroidism is a chronic disease that affect many system adversely and requires treatment. However, subclinical hypothyroidism (SH),defined obvious cases, impacts on other systems are unknown and there is no common approach to be treated. Moreover, SH may continue for many years, before they become overt hypothyroidism. Cardiovascular system (CVS) is one of the host system, which hypothyroidism adversely affects. Epicardial adipose tissue thickne...

Background: Disproportional short stature (DSS) is the most frequent clinical presentation of skeletal dysplasias, which are a heterogeneous group of more than 450 disorders of bone. Skeletal survey is important to establish the diagnosis and to guide the genetic test, but has several limitations, especially in mild and atypical cases.Objective and hypotheses: To identify the genetic aetiology of DSS by exome sequencing.Method: Who...

Background: 17 hydroxylase deficiency is a rare form of congenital adrenal hyperplasia resulting from loss-of-function mutations involving the CYP17 gene. It is characterized by decreased production of glucocorticoids and sex steroids and increased synthesis of mineralocorticoid precursors.Objective and hypotheses: We aimed to identify genetic cause of lack of puberty in a girl and the cause of ambiguous genitalia in her sibling. Fourteen-year-o...

Background: POMC deficiency is an extremely rare monogenetic obesity syndrome generally characterized by early onset hyperphagia, red hair and adrenal insufficiency. So far treatment of obesity and hyperphagia with MSH substitution failed, either due to ineffectiveness or side effects of available MC4R agonists.Objective and hypotheses: We hypothesized that the new MC-4R agonist setmelanotide might be a treatment option in POMC deficient patients.<p ...

Introduction: The leptin-melanocortin pathway plays a key-role in weight control. Pathogenic variants in the five major genes (LEP, LEPR, POMC, PCSK1, MC4R) are associated with early severe obesity. However, the specific associated phenotype with presence of mono-allelic variants and especially BMI trajectories are not well known.Objective: In order to identify specific profiles, we compared BMI trajectories during the f...

Introduction: Osteoporosis is medical condition commonly associated with immobilization in children, which can lead to a vicious cycle of disability, worsening osteoporosis, and recurrent fractures. Currently, bisphosphonates are widely used as a standard therapy in children with osteoporosis, but there are limited data on efficacy according to its dosage and duration. We aimed to evaluate efficacy of bisphosphonate treatment according to the dosage and durati...

Background: Currently, little information is available on current growth status according to birth weight at gestational age (BWGA) on Korean adolescents. Herein, the current height and weight of Korean adolescents who were born as small for gestational age (SGA) were compared to those of the non-SGA groups.Methods: Data from the population-based nationwide Korean survey 5th Korea National Health and Nutrition Examinatio...

Background: It is important to find and manage the cause of short stature in children. GH stimulation test is considered as a ‘gold standard’ for the diagnosis of GH deficiency (GHD), and several pharmacologic agents including insulin, glucagon, L-dopa, or clonidine are used for GH stimulation test (GHST). However, diagnostic value, sensitivity or specificity of each GHST is not clear.Objective and hypotheses: This study was desi...

Background: Sufficient iodine intake is required for the synthesis of thyroid hormone. Thyroid hormone is very important for normal growth and development, especially in newborn period. It is also well known that excess iodine intake may cause adverse effect in thyroid function.Objectives and hypotheses: This study was designed to find the iodine status of the newborn with normal thyroid function confirmed by newborn screening of thyroid function test (T...